A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575992



Internal ID16016715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73837862..74657093hg38UCSC Ensembl
Innerchr17:71834001..72653232hg19UCSC Ensembl
Innerchr17:69345596..70164827hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38819232
hg19819232
hg18819232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5768n54
Supporting Variantsnssv876061, nssv1149805
SamplesNINDS_131
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RPL38, TTYH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575992
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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